Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184327384C>A | CA437330603 | EIF2B5,EIF4G1 | c.3597C>A (p.Ser1199=) c.3531C>A (p.Ser1177=) c.2944C>A (n.2944C>A) c.3000C>A (p.Ser1000=) c.3600C>A (p.Ser1200=) c.3105C>A (p.Ser1035=) c.3618C>A (p.Ser1206=) c.3336C>A (p.Ser1112=) c.3480C>A (p.Ser1160=) c.3477C>A (p.Ser1159=) c.3339C>A (p.Ser1113=) c.3012C>A (p.Ser1004=) c.3009C>A (p.Ser1003=) c.3108C>A (p.Ser1036=) c.*3036C>A (n.*3036C>A) c.2106+182677C>A (n.2106+182677C>A) n.99C>A | |
3 | g.184327384C= | CA1425958368 | EIF2B5,EIF4G1 | c.3597C= (p.Ser1199=) c.3531C= (p.Ser1177=) c.2944C= (n.2944C=) c.3000C= (p.Ser1000=) c.3600C= (p.Ser1200=) c.3105C= (p.Ser1035=) c.3618C= (p.Ser1206=) c.3336C= (p.Ser1112=) c.3480C= (p.Ser1160=) c.3477C= (p.Ser1159=) c.3339C= (p.Ser1113=) c.3012C= (p.Ser1004=) c.3009C= (p.Ser1003=) c.3108C= (p.Ser1036=) c.*3036C= (n.*3036C=) c.2106+182677C= (n.2106+182677C=) n.99C= | |
3 | g.184327384C>G | CA88867643 | EIF2B5,EIF4G1 | c.3597C>G (p.Ser1199=) c.3531C>G (p.Ser1177=) c.2944C>G (n.2944C>G) c.3000C>G (p.Ser1000=) c.3600C>G (p.Ser1200=) c.3105C>G (p.Ser1035=) c.3618C>G (p.Ser1206=) c.3336C>G (p.Ser1112=) c.3480C>G (p.Ser1160=) c.3477C>G (p.Ser1159=) c.3339C>G (p.Ser1113=) c.3012C>G (p.Ser1004=) c.3009C>G (p.Ser1003=) c.3108C>G (p.Ser1036=) c.*3036C>G (n.*3036C>G) c.2106+182677C>G (n.2106+182677C>G) n.99C>G | dbSNP |
3 | g.184327384C>T | CA437330604 | EIF2B5,EIF4G1 | c.3597C>T (p.Ser1199=) c.3531C>T (p.Ser1177=) c.2944C>T (n.2944C>T) c.3000C>T (p.Ser1000=) c.3600C>T (p.Ser1200=) c.3105C>T (p.Ser1035=) c.3618C>T (p.Ser1206=) c.3336C>T (p.Ser1112=) c.3480C>T (p.Ser1160=) c.3477C>T (p.Ser1159=) c.3339C>T (p.Ser1113=) c.3012C>T (p.Ser1004=) c.3009C>T (p.Ser1003=) c.3108C>T (p.Ser1036=) c.*3036C>T (n.*3036C>T) c.2106+182677C>T (n.2106+182677C>T) n.99C>T | |
3 | g.184327385C>A | CA355415200 | EIF2B5,EIF4G1 | c.3598C>A (p.Gln1200Lys) c.3532C>A (p.Gln1178Lys) c.2945C>A (n.2945C>A) c.3001C>A (p.Gln1001Lys) c.3601C>A (p.Gln1201Lys) c.3106C>A (p.Gln1036Lys) c.3619C>A (p.Gln1207Lys) c.3337C>A (p.Gln1113Lys) c.3481C>A (p.Gln1161Lys) c.3478C>A (p.Gln1160Lys) c.3340C>A (p.Gln1114Lys) c.3013C>A (p.Gln1005Lys) c.3010C>A (p.Gln1004Lys) c.3109C>A (p.Gln1037Lys) c.*3037C>A (n.*3037C>A) c.2106+182678C>A (n.2106+182678C>A) n.100C>A | |
3 | g.184327385C>G | CA355415202 | EIF2B5,EIF4G1 | c.3598C>G (p.Gln1200Glu) c.3532C>G (p.Gln1178Glu) c.2945C>G (n.2945C>G) c.3001C>G (p.Gln1001Glu) c.3601C>G (p.Gln1201Glu) c.3106C>G (p.Gln1036Glu) c.3619C>G (p.Gln1207Glu) c.3337C>G (p.Gln1113Glu) c.3481C>G (p.Gln1161Glu) c.3478C>G (p.Gln1160Glu) c.3340C>G (p.Gln1114Glu) c.3013C>G (p.Gln1005Glu) c.3010C>G (p.Gln1004Glu) c.3109C>G (p.Gln1037Glu) c.*3037C>G (n.*3037C>G) c.2106+182678C>G (n.2106+182678C>G) n.100C>G | |
3 | g.184327385C>T | CA355415204 | EIF2B5,EIF4G1 | c.3598C>T (p.Gln1200Ter) c.3532C>T (p.Gln1178Ter) c.2945C>T (n.2945C>T) c.3001C>T (p.Gln1001Ter) c.3601C>T (p.Gln1201Ter) c.3106C>T (p.Gln1036Ter) c.3619C>T (p.Gln1207Ter) c.3337C>T (p.Gln1113Ter) c.3481C>T (p.Gln1161Ter) c.3478C>T (p.Gln1160Ter) c.3340C>T (p.Gln1114Ter) c.3013C>T (p.Gln1005Ter) c.3010C>T (p.Gln1004Ter) c.3109C>T (p.Gln1037Ter) c.*3037C>T (n.*3037C>T) c.2106+182678C>T (n.2106+182678C>T) n.100C>T | |
3 | g.184327386A>C | CA355415210 | EIF2B5,EIF4G1 | c.3599A>C (p.Gln1200Pro) c.3533A>C (p.Gln1178Pro) c.2946A>C (n.2946A>C) c.3002A>C (p.Gln1001Pro) c.3602A>C (p.Gln1201Pro) c.3107A>C (p.Gln1036Pro) c.3620A>C (p.Gln1207Pro) c.3338A>C (p.Gln1113Pro) c.3482A>C (p.Gln1161Pro) c.3479A>C (p.Gln1160Pro) c.3341A>C (p.Gln1114Pro) c.3014A>C (p.Gln1005Pro) c.3011A>C (p.Gln1004Pro) c.3110A>C (p.Gln1037Pro) c.*3038A>C (n.*3038A>C) c.2106+182679A>C (n.2106+182679A>C) n.101A>C | |
3 | g.184327386A>G | CA355415212 | EIF2B5,EIF4G1 | c.3599A>G (p.Gln1200Arg) c.3533A>G (p.Gln1178Arg) c.2946A>G (n.2946A>G) c.3002A>G (p.Gln1001Arg) c.3602A>G (p.Gln1201Arg) c.3107A>G (p.Gln1036Arg) c.3620A>G (p.Gln1207Arg) c.3338A>G (p.Gln1113Arg) c.3482A>G (p.Gln1161Arg) c.3479A>G (p.Gln1160Arg) c.3341A>G (p.Gln1114Arg) c.3014A>G (p.Gln1005Arg) c.3011A>G (p.Gln1004Arg) c.3110A>G (p.Gln1037Arg) c.*3038A>G (n.*3038A>G) c.2106+182679A>G (n.2106+182679A>G) n.101A>G | |
3 | g.184327386A>T | CA355415208 | EIF2B5,EIF4G1 | c.3599A>T (p.Gln1200Leu) c.3533A>T (p.Gln1178Leu) c.2946A>T (n.2946A>T) c.3002A>T (p.Gln1001Leu) c.3602A>T (p.Gln1201Leu) c.3107A>T (p.Gln1036Leu) c.3620A>T (p.Gln1207Leu) c.3338A>T (p.Gln1113Leu) c.3482A>T (p.Gln1161Leu) c.3479A>T (p.Gln1160Leu) c.3341A>T (p.Gln1114Leu) c.3014A>T (p.Gln1005Leu) c.3011A>T (p.Gln1004Leu) c.3110A>T (p.Gln1037Leu) c.*3038A>T (n.*3038A>T) c.2106+182679A>T (n.2106+182679A>T) n.101A>T | |
3 | g.184327387G>A | CA437330607 | EIF2B5,EIF4G1 | c.3600G>A (p.Gln1200=) c.3534G>A (p.Gln1178=) c.2947G>A (n.2947G>A) c.3003G>A (p.Gln1001=) c.3603G>A (p.Gln1201=) c.3108G>A (p.Gln1036=) c.3621G>A (p.Gln1207=) c.3339G>A (p.Gln1113=) c.3483G>A (p.Gln1161=) c.3480G>A (p.Gln1160=) c.3342G>A (p.Gln1114=) c.3015G>A (p.Gln1005=) c.3012G>A (p.Gln1004=) c.3111G>A (p.Gln1037=) c.*3039G>A (n.*3039G>A) c.2106+182680G>A (n.2106+182680G>A) n.102G>A | |
3 | g.184327387G>C | CA355415214 | EIF2B5,EIF4G1 | c.3600G>C (p.Gln1200His) c.3534G>C (p.Gln1178His) c.2947G>C (n.2947G>C) c.3003G>C (p.Gln1001His) c.3603G>C (p.Gln1201His) c.3108G>C (p.Gln1036His) c.3621G>C (p.Gln1207His) c.3339G>C (p.Gln1113His) c.3483G>C (p.Gln1161His) c.3480G>C (p.Gln1160His) c.3342G>C (p.Gln1114His) c.3015G>C (p.Gln1005His) c.3012G>C (p.Gln1004His) c.3111G>C (p.Gln1037His) c.*3039G>C (n.*3039G>C) c.2106+182680G>C (n.2106+182680G>C) n.102G>C | dbSNP |
3 | g.184327387G= | CA1425958370 | EIF2B5,EIF4G1 | c.3600G= (p.Gln1200=) c.3534G= (p.Gln1178=) c.2947G= (n.2947G=) c.3003G= (p.Gln1001=) c.3603G= (p.Gln1201=) c.3108G= (p.Gln1036=) c.3621G= (p.Gln1207=) c.3339G= (p.Gln1113=) c.3483G= (p.Gln1161=) c.3480G= (p.Gln1160=) c.3342G= (p.Gln1114=) c.3015G= (p.Gln1005=) c.3012G= (p.Gln1004=) c.3111G= (p.Gln1037=) c.*3039G= (n.*3039G=) c.2106+182680G= (n.2106+182680G=) n.102G= | |
3 | g.184327387G>T | CA355415216 | EIF2B5,EIF4G1 | c.3600G>T (p.Gln1200His) c.3534G>T (p.Gln1178His) c.2947G>T (n.2947G>T) c.3003G>T (p.Gln1001His) c.3603G>T (p.Gln1201His) c.3108G>T (p.Gln1036His) c.3621G>T (p.Gln1207His) c.3339G>T (p.Gln1113His) c.3483G>T (p.Gln1161His) c.3480G>T (p.Gln1160His) c.3342G>T (p.Gln1114His) c.3015G>T (p.Gln1005His) c.3012G>T (p.Gln1004His) c.3111G>T (p.Gln1037His) c.*3039G>T (n.*3039G>T) c.2106+182680G>T (n.2106+182680G>T) n.102G>T | |
3 | g.184327388C>A | CA355415220 | EIF2B5,EIF4G1 | c.3601C>A (p.Pro1201Thr) c.3535C>A (p.Pro1179Thr) c.2948C>A (n.2948C>A) c.3004C>A (p.Pro1002Thr) c.3604C>A (p.Pro1202Thr) c.3109C>A (p.Pro1037Thr) c.3622C>A (p.Pro1208Thr) c.3340C>A (p.Pro1114Thr) c.3484C>A (p.Pro1162Thr) c.3481C>A (p.Pro1161Thr) c.3343C>A (p.Pro1115Thr) c.3016C>A (p.Pro1006Thr) c.3013C>A (p.Pro1005Thr) c.3112C>A (p.Pro1038Thr) c.*3040C>A (n.*3040C>A) c.2106+182681C>A (n.2106+182681C>A) n.103C>A | |
3 | g.184327388C= | CA1425958372 | EIF2B5,EIF4G1 | c.3601C= (p.Pro1201=) c.3535C= (p.Pro1179=) c.2948C= (n.2948C=) c.3004C= (p.Pro1002=) c.3604C= (p.Pro1202=) c.3109C= (p.Pro1037=) c.3622C= (p.Pro1208=) c.3340C= (p.Pro1114=) c.3484C= (p.Pro1162=) c.3481C= (p.Pro1161=) c.3343C= (p.Pro1115=) c.3016C= (p.Pro1006=) c.3013C= (p.Pro1005=) c.3112C= (p.Pro1038=) c.*3040C= (n.*3040C=) c.2106+182681C= (n.2106+182681C=) n.103C= | |
3 | g.184327388C>G | CA355415221 | EIF2B5,EIF4G1 | c.3601C>G (p.Pro1201Ala) c.3535C>G (p.Pro1179Ala) c.2948C>G (n.2948C>G) c.3004C>G (p.Pro1002Ala) c.3604C>G (p.Pro1202Ala) c.3109C>G (p.Pro1037Ala) c.3622C>G (p.Pro1208Ala) c.3340C>G (p.Pro1114Ala) c.3484C>G (p.Pro1162Ala) c.3481C>G (p.Pro1161Ala) c.3343C>G (p.Pro1115Ala) c.3016C>G (p.Pro1006Ala) c.3013C>G (p.Pro1005Ala) c.3112C>G (p.Pro1038Ala) c.*3040C>G (n.*3040C>G) c.2106+182681C>G (n.2106+182681C>G) n.103C>G | |
3 | g.184327388C>T | CA355415223 | EIF2B5,EIF4G1 | c.3601C>T (p.Pro1201Ser) c.3535C>T (p.Pro1179Ser) c.2948C>T (n.2948C>T) c.3004C>T (p.Pro1002Ser) c.3604C>T (p.Pro1202Ser) c.3109C>T (p.Pro1037Ser) c.3622C>T (p.Pro1208Ser) c.3340C>T (p.Pro1114Ser) c.3484C>T (p.Pro1162Ser) c.3481C>T (p.Pro1161Ser) c.3343C>T (p.Pro1115Ser) c.3016C>T (p.Pro1006Ser) c.3013C>T (p.Pro1005Ser) c.3112C>T (p.Pro1038Ser) c.*3040C>T (n.*3040C>T) c.2106+182681C>T (n.2106+182681C>T) n.103C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327389C>A | CA355415230 | EIF2B5,EIF4G1 | c.3602C>A (p.Pro1201His) c.3536C>A (p.Pro1179His) c.2949C>A (n.2949C>A) c.3005C>A (p.Pro1002His) c.3605C>A (p.Pro1202His) c.3110C>A (p.Pro1037His) c.3623C>A (p.Pro1208His) c.3341C>A (p.Pro1114His) c.3485C>A (p.Pro1162His) c.3482C>A (p.Pro1161His) c.3344C>A (p.Pro1115His) c.3017C>A (p.Pro1006His) c.3014C>A (p.Pro1005His) c.3113C>A (p.Pro1038His) c.*3041C>A (n.*3041C>A) c.2106+182682C>A (n.2106+182682C>A) n.104C>A | |
3 | g.184327389C>G | CA355415226 | EIF2B5,EIF4G1 | c.3602C>G (p.Pro1201Arg) c.3536C>G (p.Pro1179Arg) c.2949C>G (n.2949C>G) c.3005C>G (p.Pro1002Arg) c.3605C>G (p.Pro1202Arg) c.3110C>G (p.Pro1037Arg) c.3623C>G (p.Pro1208Arg) c.3341C>G (p.Pro1114Arg) c.3485C>G (p.Pro1162Arg) c.3482C>G (p.Pro1161Arg) c.3344C>G (p.Pro1115Arg) c.3017C>G (p.Pro1006Arg) c.3014C>G (p.Pro1005Arg) c.3113C>G (p.Pro1038Arg) c.*3041C>G (n.*3041C>G) c.2106+182682C>G (n.2106+182682C>G) n.104C>G | ClinVar |
3 | g.184327389C>T | CA355415229 | EIF2B5,EIF4G1 | c.3602C>T (p.Pro1201Leu) c.3536C>T (p.Pro1179Leu) c.2949C>T (n.2949C>T) c.3005C>T (p.Pro1002Leu) c.3605C>T (p.Pro1202Leu) c.3110C>T (p.Pro1037Leu) c.3623C>T (p.Pro1208Leu) c.3341C>T (p.Pro1114Leu) c.3485C>T (p.Pro1162Leu) c.3482C>T (p.Pro1161Leu) c.3344C>T (p.Pro1115Leu) c.3017C>T (p.Pro1006Leu) c.3014C>T (p.Pro1005Leu) c.3113C>T (p.Pro1038Leu) c.*3041C>T (n.*3041C>T) c.2106+182682C>T (n.2106+182682C>T) n.104C>T | |
3 | g.184327390T>A | CA437330609 | EIF2B5,EIF4G1 | c.3603T>A (p.Pro1201=) c.3537T>A (p.Pro1179=) c.2950T>A (n.2950T>A) c.3006T>A (p.Pro1002=) c.3606T>A (p.Pro1202=) c.3111T>A (p.Pro1037=) c.3624T>A (p.Pro1208=) c.3342T>A (p.Pro1114=) c.3486T>A (p.Pro1162=) c.3483T>A (p.Pro1161=) c.3345T>A (p.Pro1115=) c.3018T>A (p.Pro1006=) c.3015T>A (p.Pro1005=) c.3114T>A (p.Pro1038=) c.*3042T>A (n.*3042T>A) c.2106+182683T>A (n.2106+182683T>A) n.105T>A | |
3 | g.184327390T>C | CA437330610 | EIF2B5,EIF4G1 | c.3603T>C (p.Pro1201=) c.3537T>C (p.Pro1179=) c.2950T>C (n.2950T>C) c.3006T>C (p.Pro1002=) c.3606T>C (p.Pro1202=) c.3111T>C (p.Pro1037=) c.3624T>C (p.Pro1208=) c.3342T>C (p.Pro1114=) c.3486T>C (p.Pro1162=) c.3483T>C (p.Pro1161=) c.3345T>C (p.Pro1115=) c.3018T>C (p.Pro1006=) c.3015T>C (p.Pro1005=) c.3114T>C (p.Pro1038=) c.*3042T>C (n.*3042T>C) c.2106+182683T>C (n.2106+182683T>C) n.105T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327390T>G | CA437330611 | EIF2B5,EIF4G1 | c.3603T>G (p.Pro1201=) c.3537T>G (p.Pro1179=) c.2950T>G (n.2950T>G) c.3006T>G (p.Pro1002=) c.3606T>G (p.Pro1202=) c.3111T>G (p.Pro1037=) c.3624T>G (p.Pro1208=) c.3342T>G (p.Pro1114=) c.3486T>G (p.Pro1162=) c.3483T>G (p.Pro1161=) c.3345T>G (p.Pro1115=) c.3018T>G (p.Pro1006=) c.3015T>G (p.Pro1005=) c.3114T>G (p.Pro1038=) c.*3042T>G (n.*3042T>G) c.2106+182683T>G (n.2106+182683T>G) n.105T>G | gnomAD v4 |
3 | g.184327390T= | CA1425958375 | EIF2B5,EIF4G1 | c.3603T= (p.Pro1201=) c.3537T= (p.Pro1179=) c.2950T= (n.2950T=) c.3006T= (p.Pro1002=) c.3606T= (p.Pro1202=) c.3111T= (p.Pro1037=) c.3624T= (p.Pro1208=) c.3342T= (p.Pro1114=) c.3486T= (p.Pro1162=) c.3483T= (p.Pro1161=) c.3345T= (p.Pro1115=) c.3018T= (p.Pro1006=) c.3015T= (p.Pro1005=) c.3114T= (p.Pro1038=) c.*3042T= (n.*3042T=) c.2106+182683T= (n.2106+182683T=) n.105T= | |
3 | g.184327391G>A | CA355415231 | EIF2B5,EIF4G1 | c.3604G>A (p.Glu1202Lys) c.3538G>A (p.Glu1180Lys) c.2951G>A (n.2951G>A) c.3007G>A (p.Glu1003Lys) c.3607G>A (p.Glu1203Lys) c.3112G>A (p.Glu1038Lys) c.3625G>A (p.Glu1209Lys) c.3343G>A (p.Glu1115Lys) c.3487G>A (p.Glu1163Lys) c.3484G>A (p.Glu1162Lys) c.3346G>A (p.Glu1116Lys) c.3019G>A (p.Glu1007Lys) c.3016G>A (p.Glu1006Lys) c.3115G>A (p.Glu1039Lys) c.*3043G>A (n.*3043G>A) c.2106+182684G>A (n.2106+182684G>A) n.106G>A | |
3 | g.184327391G>C | CA355415233 | EIF2B5,EIF4G1 | c.3604G>C (p.Glu1202Gln) c.3538G>C (p.Glu1180Gln) c.2951G>C (n.2951G>C) c.3007G>C (p.Glu1003Gln) c.3607G>C (p.Glu1203Gln) c.3112G>C (p.Glu1038Gln) c.3625G>C (p.Glu1209Gln) c.3343G>C (p.Glu1115Gln) c.3487G>C (p.Glu1163Gln) c.3484G>C (p.Glu1162Gln) c.3346G>C (p.Glu1116Gln) c.3019G>C (p.Glu1007Gln) c.3016G>C (p.Glu1006Gln) c.3115G>C (p.Glu1039Gln) c.*3043G>C (n.*3043G>C) c.2106+182684G>C (n.2106+182684G>C) n.106G>C | dbSNP gnomAD v2 |
3 | g.184327391G= | CA1425958380 | EIF2B5,EIF4G1 | c.3604G= (p.Glu1202=) c.3538G= (p.Glu1180=) c.2951G= (n.2951G=) c.3007G= (p.Glu1003=) c.3607G= (p.Glu1203=) c.3112G= (p.Glu1038=) c.3625G= (p.Glu1209=) c.3343G= (p.Glu1115=) c.3487G= (p.Glu1163=) c.3484G= (p.Glu1162=) c.3346G= (p.Glu1116=) c.3019G= (p.Glu1007=) c.3016G= (p.Glu1006=) c.3115G= (p.Glu1039=) c.*3043G= (n.*3043G=) c.2106+182684G= (n.2106+182684G=) n.106G= | |
3 | g.184327391G>T | CA355415234 | EIF2B5,EIF4G1 | c.3604G>T (p.Glu1202Ter) c.3538G>T (p.Glu1180Ter) c.2951G>T (n.2951G>T) c.3007G>T (p.Glu1003Ter) c.3607G>T (p.Glu1203Ter) c.3112G>T (p.Glu1038Ter) c.3625G>T (p.Glu1209Ter) c.3343G>T (p.Glu1115Ter) c.3487G>T (p.Glu1163Ter) c.3484G>T (p.Glu1162Ter) c.3346G>T (p.Glu1116Ter) c.3019G>T (p.Glu1007Ter) c.3016G>T (p.Glu1006Ter) c.3115G>T (p.Glu1039Ter) c.*3043G>T (n.*3043G>T) c.2106+182684G>T (n.2106+182684G>T) n.106G>T | |
3 | g.184327392A>C | CA355415236 | EIF2B5,EIF4G1 | c.3605A>C (p.Glu1202Ala) c.3539A>C (p.Glu1180Ala) c.2952A>C (n.2952A>C) c.3008A>C (p.Glu1003Ala) c.3608A>C (p.Glu1203Ala) c.3113A>C (p.Glu1038Ala) c.3626A>C (p.Glu1209Ala) c.3344A>C (p.Glu1115Ala) c.3488A>C (p.Glu1163Ala) c.3485A>C (p.Glu1162Ala) c.3347A>C (p.Glu1116Ala) c.3020A>C (p.Glu1007Ala) c.3017A>C (p.Glu1006Ala) c.3116A>C (p.Glu1039Ala) c.*3044A>C (n.*3044A>C) c.2106+182685A>C (n.2106+182685A>C) n.107A>C | |
3 | g.184327392A>G | CA355415238 | EIF2B5,EIF4G1 | c.3605A>G (p.Glu1202Gly) c.3539A>G (p.Glu1180Gly) c.2952A>G (n.2952A>G) c.3008A>G (p.Glu1003Gly) c.3608A>G (p.Glu1203Gly) c.3113A>G (p.Glu1038Gly) c.3626A>G (p.Glu1209Gly) c.3344A>G (p.Glu1115Gly) c.3488A>G (p.Glu1163Gly) c.3485A>G (p.Glu1162Gly) c.3347A>G (p.Glu1116Gly) c.3020A>G (p.Glu1007Gly) c.3017A>G (p.Glu1006Gly) c.3116A>G (p.Glu1039Gly) c.*3044A>G (n.*3044A>G) c.2106+182685A>G (n.2106+182685A>G) n.107A>G | |
3 | g.184327392A>T | CA355415241 | EIF2B5,EIF4G1 | c.3605A>T (p.Glu1202Val) c.3539A>T (p.Glu1180Val) c.2952A>T (n.2952A>T) c.3008A>T (p.Glu1003Val) c.3608A>T (p.Glu1203Val) c.3113A>T (p.Glu1038Val) c.3626A>T (p.Glu1209Val) c.3344A>T (p.Glu1115Val) c.3488A>T (p.Glu1163Val) c.3485A>T (p.Glu1162Val) c.3347A>T (p.Glu1116Val) c.3020A>T (p.Glu1007Val) c.3017A>T (p.Glu1006Val) c.3116A>T (p.Glu1039Val) c.*3044A>T (n.*3044A>T) c.2106+182685A>T (n.2106+182685A>T) n.107A>T | |
3 | g.184327393G>A | CA437330613 | EIF2B5,EIF4G1 | c.3606G>A (p.Glu1202=) c.3540G>A (p.Glu1180=) c.2953G>A (n.2953G>A) c.3009G>A (p.Glu1003=) c.3609G>A (p.Glu1203=) c.3114G>A (p.Glu1038=) c.3627G>A (p.Glu1209=) c.3345G>A (p.Glu1115=) c.3489G>A (p.Glu1163=) c.3486G>A (p.Glu1162=) c.3348G>A (p.Glu1116=) c.3021G>A (p.Glu1007=) c.3018G>A (p.Glu1006=) c.3117G>A (p.Glu1039=) c.*3045G>A (n.*3045G>A) c.2106+182686G>A (n.2106+182686G>A) n.108G>A | |
3 | g.184327393G>C | CA355415244 | EIF2B5,EIF4G1 | c.3606G>C (p.Glu1202Asp) c.3540G>C (p.Glu1180Asp) c.2953G>C (n.2953G>C) c.3009G>C (p.Glu1003Asp) c.3609G>C (p.Glu1203Asp) c.3114G>C (p.Glu1038Asp) c.3627G>C (p.Glu1209Asp) c.3345G>C (p.Glu1115Asp) c.3489G>C (p.Glu1163Asp) c.3486G>C (p.Glu1162Asp) c.3348G>C (p.Glu1116Asp) c.3021G>C (p.Glu1007Asp) c.3018G>C (p.Glu1006Asp) c.3117G>C (p.Glu1039Asp) c.*3045G>C (n.*3045G>C) c.2106+182686G>C (n.2106+182686G>C) n.108G>C | |
3 | g.184327393G>T | CA355415246 | EIF2B5,EIF4G1 | c.3606G>T (p.Glu1202Asp) c.3540G>T (p.Glu1180Asp) c.2953G>T (n.2953G>T) c.3009G>T (p.Glu1003Asp) c.3609G>T (p.Glu1203Asp) c.3114G>T (p.Glu1038Asp) c.3627G>T (p.Glu1209Asp) c.3345G>T (p.Glu1115Asp) c.3489G>T (p.Glu1163Asp) c.3486G>T (p.Glu1162Asp) c.3348G>T (p.Glu1116Asp) c.3021G>T (p.Glu1007Asp) c.3018G>T (p.Glu1006Asp) c.3117G>T (p.Glu1039Asp) c.*3045G>T (n.*3045G>T) c.2106+182686G>T (n.2106+182686G>T) n.108G>T | |
3 | g.184327394G>A | CA2732854 | EIF2B5,EIF4G1 | c.3607G>A (p.Gly1203Arg) c.3541G>A (p.Gly1181Arg) c.2954G>A (n.2954G>A) c.3010G>A (p.Gly1004Arg) c.3610G>A (p.Gly1204Arg) c.3115G>A (p.Gly1039Arg) c.3628G>A (p.Gly1210Arg) c.3346G>A (p.Gly1116Arg) c.3490G>A (p.Gly1164Arg) c.3487G>A (p.Gly1163Arg) c.3349G>A (p.Gly1117Arg) c.3022G>A (p.Gly1008Arg) c.3019G>A (p.Gly1007Arg) c.3118G>A (p.Gly1040Arg) c.*3046G>A (n.*3046G>A) c.2106+182687G>A (n.2106+182687G>A) n.109G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327394G>C | CA355415255 | EIF2B5,EIF4G1 | c.3607G>C (p.Gly1203Arg) c.3541G>C (p.Gly1181Arg) c.2954G>C (n.2954G>C) c.3010G>C (p.Gly1004Arg) c.3610G>C (p.Gly1204Arg) c.3115G>C (p.Gly1039Arg) c.3628G>C (p.Gly1210Arg) c.3346G>C (p.Gly1116Arg) c.3490G>C (p.Gly1164Arg) c.3487G>C (p.Gly1163Arg) c.3349G>C (p.Gly1117Arg) c.3022G>C (p.Gly1008Arg) c.3019G>C (p.Gly1007Arg) c.3118G>C (p.Gly1040Arg) c.*3046G>C (n.*3046G>C) c.2106+182687G>C (n.2106+182687G>C) n.109G>C | |
3 | g.184327394G= | CA1425958384 | EIF2B5,EIF4G1 | c.3607G= (p.Gly1203=) c.3541G= (p.Gly1181=) c.2954G= (n.2954G=) c.3010G= (p.Gly1004=) c.3610G= (p.Gly1204=) c.3115G= (p.Gly1039=) c.3628G= (p.Gly1210=) c.3346G= (p.Gly1116=) c.3490G= (p.Gly1164=) c.3487G= (p.Gly1163=) c.3349G= (p.Gly1117=) c.3022G= (p.Gly1008=) c.3019G= (p.Gly1007=) c.3118G= (p.Gly1040=) c.*3046G= (n.*3046G=) c.2106+182687G= (n.2106+182687G=) n.109G= | |
3 | g.184327394G>T | CA355415253 | EIF2B5,EIF4G1 | c.3607G>T (p.Gly1203Trp) c.3541G>T (p.Gly1181Trp) c.2954G>T (n.2954G>T) c.3010G>T (p.Gly1004Trp) c.3610G>T (p.Gly1204Trp) c.3115G>T (p.Gly1039Trp) c.3628G>T (p.Gly1210Trp) c.3346G>T (p.Gly1116Trp) c.3490G>T (p.Gly1164Trp) c.3487G>T (p.Gly1163Trp) c.3349G>T (p.Gly1117Trp) c.3022G>T (p.Gly1008Trp) c.3019G>T (p.Gly1007Trp) c.3118G>T (p.Gly1040Trp) c.*3046G>T (n.*3046G>T) c.2106+182687G>T (n.2106+182687G>T) n.109G>T | |
3 | g.184327395G>A | CA355415257 | EIF2B5,EIF4G1 | c.3608G>A (p.Gly1203Glu) c.3542G>A (p.Gly1181Glu) c.2955G>A (n.2955G>A) c.3011G>A (p.Gly1004Glu) c.3611G>A (p.Gly1204Glu) c.3116G>A (p.Gly1039Glu) c.3629G>A (p.Gly1210Glu) c.3347G>A (p.Gly1116Glu) c.3491G>A (p.Gly1164Glu) c.3488G>A (p.Gly1163Glu) c.3350G>A (p.Gly1117Glu) c.3023G>A (p.Gly1008Glu) c.3020G>A (p.Gly1007Glu) c.3119G>A (p.Gly1040Glu) c.*3047G>A (n.*3047G>A) c.2106+182688G>A (n.2106+182688G>A) n.110G>A | gnomAD v4 |
3 | g.184327395G>C | CA355415261 | EIF2B5,EIF4G1 | c.3608G>C (p.Gly1203Ala) c.3542G>C (p.Gly1181Ala) c.2955G>C (n.2955G>C) c.3011G>C (p.Gly1004Ala) c.3611G>C (p.Gly1204Ala) c.3116G>C (p.Gly1039Ala) c.3629G>C (p.Gly1210Ala) c.3347G>C (p.Gly1116Ala) c.3491G>C (p.Gly1164Ala) c.3488G>C (p.Gly1163Ala) c.3350G>C (p.Gly1117Ala) c.3023G>C (p.Gly1008Ala) c.3020G>C (p.Gly1007Ala) c.3119G>C (p.Gly1040Ala) c.*3047G>C (n.*3047G>C) c.2106+182688G>C (n.2106+182688G>C) n.110G>C | |
3 | g.184327395G>T | CA355415259 | EIF2B5,EIF4G1 | c.3608G>T (p.Gly1203Val) c.3542G>T (p.Gly1181Val) c.2955G>T (n.2955G>T) c.3011G>T (p.Gly1004Val) c.3611G>T (p.Gly1204Val) c.3116G>T (p.Gly1039Val) c.3629G>T (p.Gly1210Val) c.3347G>T (p.Gly1116Val) c.3491G>T (p.Gly1164Val) c.3488G>T (p.Gly1163Val) c.3350G>T (p.Gly1117Val) c.3023G>T (p.Gly1008Val) c.3020G>T (p.Gly1007Val) c.3119G>T (p.Gly1040Val) c.*3047G>T (n.*3047G>T) c.2106+182688G>T (n.2106+182688G>T) n.110G>T | |
3 | g.184327396G>A | CA437330616 | EIF2B5,EIF4G1 | c.3609G>A (p.Gly1203=) c.3543G>A (p.Gly1181=) c.2956G>A (n.2956G>A) c.3012G>A (p.Gly1004=) c.3612G>A (p.Gly1204=) c.3117G>A (p.Gly1039=) c.3630G>A (p.Gly1210=) c.3348G>A (p.Gly1116=) c.3492G>A (p.Gly1164=) c.3489G>A (p.Gly1163=) c.3351G>A (p.Gly1117=) c.3024G>A (p.Gly1008=) c.3021G>A (p.Gly1007=) c.3120G>A (p.Gly1040=) c.*3048G>A (n.*3048G>A) c.2106+182689G>A (n.2106+182689G>A) n.111G>A | gnomAD v4 |
3 | g.184327396G>C | CA437330617 | EIF2B5,EIF4G1 | c.3609G>C (p.Gly1203=) c.3543G>C (p.Gly1181=) c.2956G>C (n.2956G>C) c.3012G>C (p.Gly1004=) c.3612G>C (p.Gly1204=) c.3117G>C (p.Gly1039=) c.3630G>C (p.Gly1210=) c.3348G>C (p.Gly1116=) c.3492G>C (p.Gly1164=) c.3489G>C (p.Gly1163=) c.3351G>C (p.Gly1117=) c.3024G>C (p.Gly1008=) c.3021G>C (p.Gly1007=) c.3120G>C (p.Gly1040=) c.*3048G>C (n.*3048G>C) c.2106+182689G>C (n.2106+182689G>C) n.111G>C | |
3 | g.184327396G>T | CA437330615 | EIF2B5,EIF4G1 | c.3609G>T (p.Gly1203=) c.3543G>T (p.Gly1181=) c.2956G>T (n.2956G>T) c.3012G>T (p.Gly1004=) c.3612G>T (p.Gly1204=) c.3117G>T (p.Gly1039=) c.3630G>T (p.Gly1210=) c.3348G>T (p.Gly1116=) c.3492G>T (p.Gly1164=) c.3489G>T (p.Gly1163=) c.3351G>T (p.Gly1117=) c.3024G>T (p.Gly1008=) c.3021G>T (p.Gly1007=) c.3120G>T (p.Gly1040=) c.*3048G>T (n.*3048G>T) c.2106+182689G>T (n.2106+182689G>T) n.111G>T | gnomAD v4 |
3 | g.184327397C>A | CA355415265 | EIF2B5,EIF4G1 | c.3610C>A (p.Leu1204Met) c.3544C>A (p.Leu1182Met) c.2957C>A (n.2957C>A) c.3013C>A (p.Leu1005Met) c.3613C>A (p.Leu1205Met) c.3118C>A (p.Leu1040Met) c.3631C>A (p.Leu1211Met) c.3349C>A (p.Leu1117Met) c.3493C>A (p.Leu1165Met) c.3490C>A (p.Leu1164Met) c.3352C>A (p.Leu1118Met) c.3025C>A (p.Leu1009Met) c.3022C>A (p.Leu1008Met) c.3121C>A (p.Leu1041Met) c.*3049C>A (n.*3049C>A) c.2106+182690C>A (n.2106+182690C>A) n.112C>A | |
3 | g.184327397C>G | CA355415267 | EIF2B5,EIF4G1 | c.3610C>G (p.Leu1204Val) c.3544C>G (p.Leu1182Val) c.2957C>G (n.2957C>G) c.3013C>G (p.Leu1005Val) c.3613C>G (p.Leu1205Val) c.3118C>G (p.Leu1040Val) c.3631C>G (p.Leu1211Val) c.3349C>G (p.Leu1117Val) c.3493C>G (p.Leu1165Val) c.3490C>G (p.Leu1164Val) c.3352C>G (p.Leu1118Val) c.3025C>G (p.Leu1009Val) c.3022C>G (p.Leu1008Val) c.3121C>G (p.Leu1041Val) c.*3049C>G (n.*3049C>G) c.2106+182690C>G (n.2106+182690C>G) n.112C>G | |
3 | g.184327397C>T | CA437330618 | EIF2B5,EIF4G1 | c.3610C>T (p.Leu1204=) c.3544C>T (p.Leu1182=) c.2957C>T (n.2957C>T) c.3013C>T (p.Leu1005=) c.3613C>T (p.Leu1205=) c.3118C>T (p.Leu1040=) c.3631C>T (p.Leu1211=) c.3349C>T (p.Leu1117=) c.3493C>T (p.Leu1165=) c.3490C>T (p.Leu1164=) c.3352C>T (p.Leu1118=) c.3025C>T (p.Leu1009=) c.3022C>T (p.Leu1008=) c.3121C>T (p.Leu1041=) c.*3049C>T (n.*3049C>T) c.2106+182690C>T (n.2106+182690C>T) n.112C>T | gnomAD v4 |
3 | g.184327398T>A | CA355415269 | EIF2B5,EIF4G1 | c.3611T>A (p.Leu1204Gln) c.3545T>A (p.Leu1182Gln) c.2958T>A (n.2958T>A) c.3014T>A (p.Leu1005Gln) c.3614T>A (p.Leu1205Gln) c.3119T>A (p.Leu1040Gln) c.3632T>A (p.Leu1211Gln) c.3350T>A (p.Leu1117Gln) c.3494T>A (p.Leu1165Gln) c.3491T>A (p.Leu1164Gln) c.3353T>A (p.Leu1118Gln) c.3026T>A (p.Leu1009Gln) c.3023T>A (p.Leu1008Gln) c.3122T>A (p.Leu1041Gln) c.*3050T>A (n.*3050T>A) c.2106+182691T>A (n.2106+182691T>A) n.113T>A | |
3 | g.184327398T>C | CA2732855 | EIF2B5,EIF4G1 | c.3611T>C (p.Leu1204Pro) c.3545T>C (p.Leu1182Pro) c.2958T>C (n.2958T>C) c.3014T>C (p.Leu1005Pro) c.3614T>C (p.Leu1205Pro) c.3119T>C (p.Leu1040Pro) c.3632T>C (p.Leu1211Pro) c.3350T>C (p.Leu1117Pro) c.3494T>C (p.Leu1165Pro) c.3491T>C (p.Leu1164Pro) c.3353T>C (p.Leu1118Pro) c.3026T>C (p.Leu1009Pro) c.3023T>C (p.Leu1008Pro) c.3122T>C (p.Leu1041Pro) c.*3050T>C (n.*3050T>C) c.2106+182691T>C (n.2106+182691T>C) n.113T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |